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Protein Coding Gene : Amph amphiphysin

Primary Identifier  MGI:103574 Organism  mouse, laboratory
Chromosome  13 NCBI Gene Number  218038
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable phosphatase binding activity and phospholipid binding activity. Involved in synaptic vesicle endocytosis. Acts upstream of or within learning. Located in synaptic vesicle. Is active in glutamatergic synapse; photoreceptor ribbon synapse; and presynaptic endocytic zone. Is expressed in several structures, including allantois; brain; genitourinary system; liver; and septum transversum. Orthologous to human AMPH (amphiphysin).
PHENOTYPE: Mice homozygous for a targeted mutation of this gene exhibit learning deficits and synaptic vesicle recycling defects, and die between 2 to 5 months of age from rare irreversible seizures. [provided by MGI curators]
  • synonyms:
  • Amph,
  • MGD-MRK-24459,
  • amphiphysin

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

3 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For